Finding out that you are a carrier does not impact your health- it means you have one changed copy of a gene and one normal copy of a gene and you only need one working copy of the gene. We all carry changes like this in our genes.

Implications for you:

Finding out you are a carrier allows you to make decisions when planning a family. It is important that your partner be tested to determine whether they are also a carrier of the same condition. Two carriers of the same conditions have a one in four chance of having a child with that condition. Genetic counselling is available to discuss the options in this case. There are a number of options for couples where both are carriers of the same condition to prevent the birth of a child with that condition.

Implications for your family:

We all inherit our genes from our parents- half from our mother and half from our father. This means that at least one parent of a carrier is also a carrier and other family members may also be carriers. If you are found to be a carrier, you are encouraged to discuss this result with your family members as it may have implications to their family planning.

Supported by Pratt Philanthropies, Gandel Philanthropies, The Besen Family Foundation, The Finkel Foundation and anonymous donors